Variant report

Variant	rs11914180
Chromosome Location	chr22:31154353-31154354
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11912801	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56305932	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58922136	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60487986	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61688449	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6518714	0.90[AFR][1000 genomes]
rs7287698	0.90[AFR][1000 genomes]
rs7289229	1.00[AMR][1000 genomes]
rs73400354	1.00[AMR][1000 genomes]
rs73400382	0.90[AFR][1000 genomes]
rs73402248	0.84[AFR][1000 genomes]
rs73884436	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8137597	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv2763260	chr22:31141521-31185000	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31139600-31160000	Weak transcription	Brain Germinal Matrix	brain
2	chr22:31140000-31185400	Weak transcription	Fetal Brain Female	brain
3	chr22:31148200-31155800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:31150000-31173400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr22:31151200-31162600	Weak transcription	Spleen	Spleen
6	chr22:31151200-31167600	Weak transcription	Brain Substantia Nigra	brain
7	chr22:31151400-31154600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:31151400-31156800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr22:31151400-31156800	Weak transcription	NHDF-Ad	bronchial
10	chr22:31151400-31159800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:31151400-31167400	Weak transcription	Brain Hippocampus Middle	brain
12	chr22:31151400-31172800	Weak transcription	Brain Anterior Caudate	brain
13	chr22:31151600-31160000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr22:31151600-31160000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:31151600-31167200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr22:31151600-31167400	Weak transcription	Brain Angular Gyrus	brain
17	chr22:31152800-31155000	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr22:31153400-31155000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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